Neuronal ceroid lipofuscinosis type 7: a case report

Case presentation: Female patient, 5 years old, from the countryside of Paraná. Admitted to the pediatric service due to regression of neuropsychomotor development and epilepsy with change in seizure pattern. The patient had an adequate development for her age until she was three years old. When she started with focal seizures associated with ocular eversion and loss of gait and speech ability. At hospital admission, the mother reported more frequent generalized tonic-clonic seizures than usual, associated with ataxia. On physical examination, patient with globally reduced strength, especially in the lower limbs. Spastic limbs and cogwheel sign to passive mobilization. Right hyporeflexia. Positive Babinski sign in lower limbs. Facial hypotonia. Initiated investigation for progressive encephalopathy. Electroencephalogram with almost continuous generalized epileptiform activity, starting with Valproic Acid 20mg/kg/day. Skull MRI with alteration in periventricular white matter in cerebral hemispheres determining volumetric loss of regional white matter. Evaluated by the ophthalmology team, with description of pale retina, nerve with increased excavation and macular color change. Panel on Epilepsies and Ataxias was performed with a result of neuronal ceroid lipofuscinosis type 7.

Discussion: Neuronal ceroid lipofuscinosis type 7, caused by a mutation in the MFSD8 gene, leads to neuropsychomotor development regression, epilepsy and visual changes. The age of onset of symptoms ranges from two to eleven years, with an average of five years. There is no specific treatment for the presented disorder, however, the early recognition of symptoms allows a more complete neurological follow-up and a more adequate control of the presented symptoms.

Final comments: The report of neurodegenerative diseases contributes to greater knowledge in the management of these patients. Neuronal ceroid lipofuscinosis type 7 does not present a curative treatment, but the correct diagnosis provides a better follow-up of these patients.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023